Kennedy spinal amyotrophy

Kennedy spinal amyotrophy is a genetic disease characterized by damage to motor neurons. These are large nerve cells responsible for maintaining muscle tone and motor coordination. This type of amyotrophy is unique in that the first symptomatology manifests itself at a late age. Usually this is 40-50 years, but medicine knows cases of both an earlier manifestation (15 years) and a later one (70 years). Concomitant genetic pathologies lead to such an unusual development of the disease.

With Kennedy spinal amyotrophy, the androgen receptor (AR) gene is damaged, which is located at the Xq11,2-12 locus. Transmission of the disease is associated with the X chromosome. That is why amyotrophy of this type “in full version” is found only in men.

The presence of gene problems in parents does not always lead to the appearance of an ailment in the child. For example, according to recent studies, a woman with a genetic defect transfers the disease to about half of her sons.

A woman can be a carrier of a damaged gene. In this case, cases of manifestation of only minimal symptoms are possible: for example, hand tremor.
The disease manifests itself late and slowly develops. As a result, patients usually receive a relatively favorable prognosis. The disease progresses, but the patient has a chance to live to an advanced age without a critical decrease in the quality of life.

Kennedy spinal amyotrophy is a rare disease. On average, it occurs 2.5 times per 100 thousand population.

Causes

Kennedy spinal amyotrophy is a complex genetic disease. Despite the fact that it was studied relatively long ago (1968), there is little reliable information about the causes, development options, prevention and treatment.

Symptoms of Spinal Amyotrophy Kennedy

Usually the disease manifests itself in 40-50 years. The main symptom is fatigue, muscle weakness, inability to perform work that previously did not cause difficulties. At this stage, only a small proportion of patients turn to a specialist, attributing discomfort to age and overwork. It is worth worrying if the problem appeared on its own, without hypothermia, SARS, and prolonged hard physical work.

At the first stages, hand tremor appears. Decreased muscle tone in the legs leads to a change in gait. It is difficult for the patient to rise on his own: for this he uses surrounding objects. Paresis and muscle twitching appear.

At the first stages of the development of the disease, the symptoms bring discomfort, reduce the quality of life, and more serious pathologies usually develop 10-15 years after the manifestation (manifestations of the first signs). The sky, pharynx suffers, atrophic changes in the tongue, spontaneous twitching of the corners of the mouth appear. Dysarthria develops: due to the weakness of the muscles of the articulatory apparatus, the patient’s speech becomes illegible. The muscles of the facial muscles lose their tone, become “lethargic”.

It should be noted that this often leads to endocrine-metabolic disorders, such as diabetes mellitus, gynecomastia (breast enlargement), testicular atrophy.

Diagnosis of spinal amyotrophy Kennedy

After a neurological examination, if Kennedy is suspected of having amyotrophy, the doctor recommends additional tests, such as electromyography, a blood test for creatine phosphokinase, and genetic studies.

Kennedy Spinal Amyotrophy Treatment

Specialists make up a therapy aimed at suppressing symptoms and slowing down the rate of development of the disease. Metamer treatment methods have proven their effectiveness. Their essence lies in the impact on certain areas of the body. Patients are injected with drugs that improve blood circulation, trophism and metabolism of muscles, nerve tissues, restore sensory and reflex abilities.

Many patients need psychological support. In the early stages, they may need sedatives. Doctors ask patients to minimize physical activity, to avoid stress.

Conclusion

Kennedy’s spinal amyotrophy manifests itself late and is not distinguished by rapid development. If you diagnose the disease in time and start maintenance therapy, the patient has a chance to live a long life. If you find the first symptoms, consult a specialist.